Variant (rsID / SNP)

rs121434429

rs121434429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS2, FCER1G. Location: chromosome 1, position 161,183,463. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:161183463
Cytoband: 1q23.3
HGVS: NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro)
Allele change: Missense_S413P

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 6

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.